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New non-invasive testing procedures should prompt wider debate

Posted in Diagnostic testing, Scientific research by Matt at WelcometoIllinois on October 7, 2008

Numerous news sites reported yesterday on the development of new non-invasive prenatal test for Down’s syndrome being developed by scientists at Stanford University.

Like the previously reported test being developed by Sequenom, the Stanford test is said to be 100% accurate in identifying chromosomal disorders without the risk of miscarriage.

There is obviously a lot of interest in both tests, especially given recent research which indicated that invasive tests such as amniocentesis and chorionic villus sampling (CVS) carry a much higher risk of causing the miscarriage of healthy babies than previously thought.

It’s early days for both the Sequenom and Stanford tests, however. As this report from the New York Times indicates: “The Stanford test has been tried on only 18 blood samples. Sequenom has tried its test on only about 400 samples and has not yet published its results in peer-reviewed journals.”

There is nevertheless much excitement about lowering the risks of testing for Down’s syndrome, so much so that little thought appears to be being put into whether the tests should be carried out in the first place.

As was previously pointed out in relation to research carried out in Hong Kong, associated with the Sequenom test, there is no such thing as risk free for the unborn baby with Down’s syndrome.

The New York Times report does quote Mark Leach, the father of a 4-year-old girl with the condition and chairman of Down Syndrome Affiliates in Action as stating that testing technology “has outpaced society’s understanding of what life with Down syndrome is like,” and also cites Sarah Palin’s decision to continue with her pregnancy with Trig Palin, but that’s as far as discussion of the wider implications goes.

It’s good to see the Down’s Syndrome Association making the point in this BBC report that more widespread testing has to be accompanied with accurate information about Down’s syndrome, but evn then it is tucked away at the end of the story.

While the development of more accurate testing procedures is to be welcomed in terms of reducing false-positives and false-negatives, I believe they also provide an opportunity for wider debate on the accepted wisdom that it is accpetable to prenatally diagnose Down’s syndrome in the first place.


5 Responses

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  1. Rickismom said, on October 7, 2008 at 8:28 am

    i don’t think that at this stage of the game, people will return to the idea of not testing. We can only hope that as our adults benifit from improved education, more jobs in the community, etc., the world will get out that people with Down syndrome are PEOPLE, and valuable to one’s family.

  2. welcometoillinois said, on October 8, 2008 at 5:47 am

    Yes I agree. Talking this through with my wife yesterday we agreed that if we were in the same situation again we would want to test again because we would want to know about the health of our baby. From that point of view I would rather do a single blood test with no false positives than an initial combined test and follow-up amnio. I still think that as testing becomes easier there is room for debate about *why* it is done though. Perhaps this will come as tests for other conditions are brought to market, however.

  3. […] This is why I am in favour of new non-invasive DNA testing currently being developed, although that’s another matter. […]

  4. […] the subject of those DNA testing procedures I previously wrote that “While the development of more accurate testing procedures is to be welcomed in terms of […]

  5. […] That is the central question that I believe should be at the heart of the debate I would like to see as more accurate and less-invasive testing procedures become […]

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